C1QA gene mutations in a pediatric SLE cohort from North India

2017 ◽  
Vol 89 ◽  
pp. 117
Author(s):  
Amit Rawat ◽  
Madhubala Sharma ◽  
Sagar Bhattad ◽  
Deepti Suri ◽  
Anju Gupta ◽  
...  
Keyword(s):  
Gene Mutations ◽  
North India ◽  
Pediatric Sle

scholarly journals Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Mukesh Tanwar ◽  
Tanuj Dada ◽  
Rima Dada
Keyword(s):  
Clinical Manifestations ◽  
Gene Mutations ◽  
Corneal Opacity ◽  
North India ◽  
Congenital Glaucoma ◽  
Causative Gene ◽  
Nasal Bridge ◽  
Rieger Syndrome ◽  
Cytochrome P4501b1 ◽  
Outflow Pathway

Developmental anomalies of the ocular anterior chamber angle may lead to an incomplete development of the structures that form the conventional aqueous outflow pathway. Thus, disorders that present with such dysfunction tend to be associated with glaucoma. Among them, Axenfeld-Rieger (ARS) malformation is a rare clinical entity with an estimated prevalence of one in every 200,000 individuals. The changes in eye morphogenesis in ARS are highly penetrant and are associated with 50% risk of development of glaucoma. Mutations in the cytochrome P4501B1 (CYP1B1) gene have been reported to be associated with primary congenital glaucoma and other forms of glaucoma and mutations in pituitary homeobox 2 (PITX2) gene have been identified in ARS in various studies. This case was negative forPITX2mutations and compound heterozygote forCYP1B1mutations. Clinical manifestations of this patient include bilateral elevated intraocular pressure (>40 mmHg) with increased corneal diameter (>14 mm) and corneal opacity. Patient also had iridocorneal adhesions, anteriorly displaced Schwalbe line, anterior insertion of iris, broad nasal bridge and protruding umbilicus. This is the first study from north India reportingCYP1B1mutations in Axenfeld-Rieger syndrome with bilateral buphthalmos and early onset glaucoma. Result of this study supports the role ofCYP1B1as a causative gene in ASD disorders and its role in oculogenesis.

scholarly journals PREVALENCE OF ALPHA THALASSEMIA IN MICROCYTIC ANEMIA: A TERTIARY CARE EXPERIENCE FROM NORTH INDIA

2015 ◽  
Vol 7 ◽  
pp. e2015004 ◽  
Author(s):  
Monica Sharma ◽  
Sanjay Pandey ◽  
Ravi Ranjan ◽  
Tulika Seth ◽  
Renu Saxena
Keyword(s):  
Iron Supplementation ◽  
Single Case ◽  
Globin Gene ◽  
Tertiary Care ◽  
Transferrin Saturation ◽  
Gene Mutations ◽  
Microcytic Anemia ◽  
North India ◽  
Deficiency Anemia ◽  
Gene Deletions

IntroductionCases with microcytosis not responding adequately to iron supplementation are diagnostic dilemma and have been reported to harbor alpha (α) thalassemia mutations. The aim of this study was to identify and determine the common α globin gene deletions in cases with  microcytic anemia.Methods Fifty four patients selected (22 females and 32 males) had microcytic anemia (MCV < 80 fl, Hemoglobin Hb <12gm/dl) with raised TRBC (> 5M/mm3) but normal HbHPLC. They had either low or normal Transferrin Saturation (TS). Gap-PCR for four common a-gene deletions (-a3.7, -a4.2, - -aSA and --aSEA) was done.Results Out of the total fifty four microcytic anemia cases nineteen (35.2%) were found to have  a gene mutations; Three homozygous and sixteen heterozygous  cases of chiefly -a3.7 deletions, a single case of -- a SA  were noted  ; but no -a4.2 and –SEA  mutations  were found.Conclusion In India a gene mutations may be much more than what has been documented and its presence should be considered as a causes of relentless microcytic anemia not responding to iron. It can confound iron deficiency anemia hence its coexistence should be sought  even in the face of low iron stores in subjects who respond incompletely to iron supplementation. Since no RBC indices or a discriminant function can identify its presence only molecular studies commonly using  Gap PCR for common α thalassemia deletions mutation including – α SA need to be done for their detection.

scholarly journals Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

2020 ◽  
Author(s):  
Ankur K. Jindal ◽  
Amit Rawat ◽  
Anit Kaur ◽  
Dhrubajyoti Sharma ◽  
Deepti Suri ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Hereditary Angioedema ◽  
Gene Mutations ◽  
North India ◽  
Serping1 Gene
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